Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
plectin 0.523 0.808 8.3E-12
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 51752
Gene Symbol: ERAP1
ERAP1
endoplasmic reticulum aminopeptidase 1 0.556 0.692 2.1E-26
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
adenosine deaminase 2 0.545 0.846 8.1E-08
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 5216
Gene Symbol: PFN1
PFN1
profilin 1 0.565 0.769 0.73
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 5256
Gene Symbol: PHKA2
PHKA2
phosphorylase kinase regulatory subunit alpha 2 0.678 0.462 0.38
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2
phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
phosphatidylinositol glycan anchor biosynthesis class A 0.575 0.654 0.96
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 5446
Gene Symbol: PON3
PON3
paraoxonase 3 0.663 0.692 2.1E-07
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1
POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 55750
Gene Symbol: AGK
AGK
acylglycerol kinase 0.650 0.654 6.0E-09
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 55830
Gene Symbol: GLT8D1
GLT8D1
glycosyltransferase 8 domain containing 1 0.711 0.462 1.1E-08
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 56244
Gene Symbol: BTNL2
BTNL2
butyrophilin like 2 0.546 0.808 8.6E-11
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 5626
Gene Symbol: PROP1
PROP1
PROP paired-like homeobox 1 0.576 0.615 8.8E-02
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 56262
Gene Symbol: LRRC8A
LRRC8A
leucine rich repeat containing 8 VRAC subunit A 0.644 0.692 0.94
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH
peripherin 0.623 0.462 4.8E-14
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 5657
Gene Symbol: PRTN3
PRTN3
proteinase 3 0.503 0.808 3.8E-05
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.110 None 1.000 0 0 2020 2020
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 5566
Gene Symbol: PRKACA
PRKACA
protein kinase cAMP-activated catalytic subunit alpha 0.606 0.692 0.97
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 5450
Gene Symbol: POU2AF1
POU2AF1
POU class 2 homeobox associating factor 1 0.608 0.615 0.57
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 54790
Gene Symbol: TET2
TET2
tet methylcytosine dioxygenase 2 0.458 0.808 4.3E-54
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
BCL6 corepressor 0.471 0.808 1.00
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype 0.100 None 0 0